A2S (p.Ala2Ser) variant of MEFV (Pyrin)
A2S (p.Ala2Ser) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- Ensembl rs1242183891
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.19
- CADD 22.60
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available